Association of sex hormone receptor gene polymorphisms with recurrent pregnancy loss: A systematic review and meta-analysis

Fertility and Sterility

Volumn 96, Issue 6, 2011, Pages

  Su, Mei Tsz ^a,b   Lin, Sheng Hsiang ^b   Chen, Yi Chi ^c  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^c NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

estrogen receptor; Meta analysis; progesterone receptor; recurrent pregnancy loss; X chromosome inactivation

Indexed keywords

ANDROGEN RECEPTOR; ESTROGEN RECEPTOR ALPHA; PROGESTERONE RECEPTOR;

GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; PRIORITY JOURNAL; RECURRENT PREGNANCY LOSS; REVIEW; SPONTANEOUS ABORTION; SYSTEMATIC REVIEW; X CHROMOSOME INACTIVATION;

EID: 82455162436     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2011.09.030     Document Type: Article

References (54)

1. K.H. Baek, E.J. Lee, and Y.S. Kim Recurrent pregnancy loss: the key potential mechanisms Trends Mol Med 13 2007 310 317
2. H.B. Ford, and D.J. Schust Recurrent pregnancy loss: etiology, diagnosis and therapy Rev Obstet Gynecol 4 2009 76 83
3. G.J. Pepe, and E.D. Albrecht Actions of placental and fetal adrenal steroid hormones in primate pregnancy Endocr Rev 16 1995 608 648
4. J.D. Graham, and C.L. Clarke Physiological action of progesterone in target tissues Endocr Rev 18 1997 502 519 (Pubitemid 27349554)
5. A. Romano, P.J. Lindsey, D.C. Fischer, B. Delvoux, A.D. Paulussen, and R.G. Janssen Two functionally relevant polymorphisms in the human progesterone receptor gene (+331 G/A and PROGINS) and the predisposition for breast and/or ovarian cancer Gynecol Oncol 101 2006 287 295
6. S.M. Rowe, S.J. Coughlan, N.J. McKenna, E. Garrett, D.G. Kieback, and D.N. Carney Ovarian carcinoma-associated TaqI restriction fragment length polymorphism in intron G of the progesterone receptor gene is due to an Alu sequence insertion Cancer Res 55 1995 2743 2745
7. I.U. Agoulnik, X.W. Tong, D.C. Fischer, K. Körner, N.E. Atkinson, and D.P. Edwards A germline variation in the progesterone receptor gene increases transcriptional activity and may modify ovarian cancer risk J Clin Endocrinol Metab 89 2004 6340 6347 (Pubitemid 39628457)
8. A. Romano, B. Delvoux, D.C. Fischer, and P. Groothuis The PROGINS polymorphism of the human progesterone receptor diminishes the response to progesterone J Mol Endocrinol 38 2007 331 350 (Pubitemid 46351613)
9. E.D. Albrecht, G.W. Aberdeen, and G.J. Pepe The role of estrogen in the maintenance of primate pregnancy Am J Obstet Gynecol 182 2000 432 438 (Pubitemid 30127359)
10. J.F. Couse, J. Lindzey, K. Grandien, J.A. Gustafsson, and K.S. Korach Tissue distribution and quantitative analysis of estrogen receptor-alpha (ERalpha) and estrogen receptor-beta (ERbeta) messenger ribonucleic acid in the wild-type and ERalpha-knockout mouse Endocrinology 138 1997 4613 4621 (Pubitemid 27460895)
11. S.C. Hewitt, and K.S. Korach Oestrogen receptor knockout mice: roles for oestrogen receptors alpha and beta in reproductive tissues Reproduction 125 2003 143 149 (Pubitemid 36284886)
12. L.P. Alcazar, P.A. Arakaki, A. Godoy-Santos, and M. Santos Estrogen receptor polymorphism and its relationship to pathological process Am J Med Sci 340 2010 128 132
13. A.M. Aléssio, L.H. Siqueira, E.C. de Carvalho, R. Barini, P. Mansur Ade, and N.F. Hoehr Estrogen receptor alpha and beta gene polymorphisms are not risk factors for recurrent miscarriage in a Brazilian population Clin Appl Thromb Hemost 14 2008 180 185 (Pubitemid 351364012)
14. B. Pineda, C. Hermenegildo, J.J. Tarín, P. Laporta, A. Cano, and M.A. García-Pérez Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion Fertil Steril 93 2010 1809 1815
15. C.W. Hanna, K.L. Bretherick, C.C. Liu, M.D. Stephenson, and W.P. Robinson Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage Hum Reprod 25 2010 2664 2671
16. J.A. Taylor, A.J. Wilcox, W.A. Bowes, Y. Li, E.T. Liu, and M. You Risk of miscarriage and a common variant of the estrogen receptor gene Am J Epidemiol 137 1993 1361 1364 (Pubitemid 23215036)
17. G.S. Berkowitz, J.L. Stone, S.P. Lehrer, M. Marcus, R.H. Lapinski, and B.S. Schachter An estrogen receptor genetic polymorphism and the risk of primary and secondary recurrent spontaneous abortion Am J Obstet Gynecol 171 1994 1579 1584
18. J. Fujimoto, R. Hirose, S. Ichigo, H. Sakaguchi, and T. Tamaya DNA polymorphism in B-domain of the estrogen receptor-alpha among Japanese women Steroids 63 1998 146 148 (Pubitemid 28173392)
19. S. Lehrer, M. Sanchez, H.K. Song, J. Dalton, E. Levine, and P. Savoretti Oestrogen receptor B-region polymorphism and spontaneous abortion in women with breast cancer Lancet 335 1990 622 624 (Pubitemid 20092653)
20. K.A. Walters, U. Simanainen, and D.J. Handelsman Molecular insights into androgen actions in male and female reproductive function from androgen receptor knockout models Hum Reprod Update 16 2010 543 558
21. J. Beilin, E.M. Ball, J.M. Favaloro, and J.D. Zajac Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines J Mol Endocrinol 25 2000 85 96 (Pubitemid 30617076)
22. S. Dasgupta, P.V. Sirisha, K. Neelaveni, K. Anuradha, A.G. Reddy, and K. Thangaraj Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with polycystic ovary syndrome PLoS One 5 2010 e12401
23. Möhlig M, Arafat AM, Osterhoff M, Isken F, Weickert M, Spranger J, et al. Androgen receptor CAG repeat length polymorphism modifies the impact of testosterone on insulin sensitivity in men. Eur J Endocrinol. In press.
24. Rajender S, Francis A, Pooja S, Krupakar N, Surekha D, Reddy G, et al. CAG repeat length polymorphism in the androgen receptor gene and breast cancer risk: data on Indian women and survey from the world. Breast Cancer Res Treat 2011;127:751-60.
25. R. Kumar, H. Atamna, M.N. Zakharov, S. Bhasin, S.H. Khan, and R. Jasuja Role of the androgen receptor CAG repeat polymorphism in prostate cancer, and spinal and bulbar muscular atrophy Life Sci 88 2011 565 571
26. M. Aruna, S. Dasgupta, P.V. Sirisha, S. Andal Bhaskar, S. Tarakeswari, and L. Singh Role of androgen receptor CAG repeat polymorphism and X-inactivation in the manifestation of recurrent spontaneous abortions in Indian women PLoS One 6 2011 e17718
27. N.L. Chamberlain, E.D. Driver, and R.L. Miesfeld The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function Nucleic Acids Res 22 1994 3181 3186 (Pubitemid 24260654)
28. B.R. Migeon, H.W. Moser, A.B. Moser, J. Axelman, D. Sillence, and R.A. Norum Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells Proc Natl Acad Sci U S A 78 1981 5066 5070 (Pubitemid 12229673)
29. M.C. Lanasa, W.A. Hogge, C.J. Kubik, R.B. Ness, J. Harger, and T. Nagel A novel X chromosome-linked genetic cause of recurrent spontaneous abortion Am J Obstet Gynecol 185 2001 563 568
30. J. Minks, W.P. Robinson, and C.J. Brown A skewed view of X chromosome inactivation J Clin Invest 118 2008 20 23
31. A. Sotiriadis, A. Makrigiannakis, T. Stefos, E. Paraskevaidis, and S.N. Kalantaridou Fibrinolytic defects and recurrent miscarriage: a systematic review and meta-analysis Obstet Gynecol 109 2007 1146 1155 (Pubitemid 46685960)
32. R. DerSimonian, and N. Laird Meta-analysis in clinical trials Control Clin Trials 7 1986 177 188 (Pubitemid 17189972)
33. S. Sankey, L. Weisfiel, M. Fine, and W. Kapoor An assessment of the use of the continuity correction for sparse data in meta-analysis Common Stat Simulation 25 1996 1031 1056 (Pubitemid 126434250)
34. J.P. Higgins, S.G. Thompson, J.J. Deeks, and D.G. Altman Measuring inconsistency in meta-analyses BMJ 327 2003 557 560 (Pubitemid 37088507)
35. M. Egger, G. Davey Smith, M. Schneider, and C. Minder Bias in meta-analysis detected by a simple, graphical test BMJ 315 1997 629 634 (Pubitemid 27387172)
36. C. Kurz, C.B. Tempfer, S. Boecskoer, G. Unfried, F. Nagele, and L.A. Hefler The PROGINS progesterone receptor gene polymorphism and idiopathic recurrent miscarriage J Soc Gynecol Investig 8 2001 295 298 (Pubitemid 33035930)
37. A. Schweikert, T. Rau, A. Berkholz, A. Allera, S. Daufeldt, and L. Wildt Association of progesterone receptor polymorphism with recurrent abortions Eur J Obstet Gynecol Reprod Biol 113 2004 67 72 (Pubitemid 38281197)
38. M. Aruna, T. Nagaraja, S. Andal, S. Tarakeswari, P.V. Sirisha, and A.G. Reddy Role of progesterone receptor polymorphisms in the recurrent spontaneous abortions: Indian case PLoS One 5 2010 e8712
39. E. Traina, S. Daher, A.F. Moron, S.Y. Sun, C.S. Franchim, and R. Mattar Polymorphisms in VEGF, progesterone receptor and IL-1 receptor genes in women with recurrent spontaneous abortion J Reprod Immunol 88 2011 53 57
40. M.T. Su, I.W. Lee, Y.C. Chen, and P.L. Kuo Association of progesterone receptor polymorphism with idiopathic recurrent pregnancy loss in Taiwanese Han population J Assist Reprod Genet 28 2011 239 243
41. K.K. Sangha, M.D. Stephenson, C.J. Brown, and W.P. Robinson Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion Am J Hum Genet 65 1999 913 917 (Pubitemid 30468735)
42. S. Uehara, M. Hashiyada, K. Sato, Y. Sato, K. Fujimori, and K. Okamura Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss Fertil Steril 76 2001 908 914 (Pubitemid 33031314)
43. C.L. Beever, M.D. Stephenson, M.S. Peñaherrera, R.H. Jiang, D.K. Kalousek, and M. Hayden Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies Am J Hum Genet 72 2003 399 407 (Pubitemid 36194248)
44. A.E. Sullivan, T. Lewis, M. Stephenson, R. Odem, J. Schreiber, and C. Ober Pregnancy outcome in recurrent miscarriage patients with skewed X chromosome inactivation Obstet Gynecol 101 2003 1236 1242 (Pubitemid 36694349)
45. J.W. Kim, S.Y. Park, Y.M. Kim, J.M. Kim, J.Y. Han, and H.M. Ryu X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion J Korean Med Sci 19 2004 258 262
46. S. Bagislar, I. Ustuner, B. Cengiz, F. Soylemez, C.B. Akyerli, and S. Ceylaner Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion Aust N Z J Obstet Gynaecol 46 2006 384 387 (Pubitemid 44309076)
47. W.A. Hogge, T.L. Prosen, M.C. Lanasa, H.A. Huber, and M.F. Reeves Recurrent spontaneous abortion and skewed X-inactivation: is there an association? Am J Obstet Gynecol 196 2007 384.e1-6
48. E. Pasquier, C. Bohec, L. De Saint Martin, C. Le Maréchal, M.T. Le Martelot, and S. Roche Strong evidence that skewed X-chromosome inactivation is not associated with recurrent pregnancy loss: an incident paired case control study Hum Reprod 22 2007 2829 2833 (Pubitemid 351696804)
49. M. Kaare, J.N. Painter, V.M. Ulander, R. Kaaja, and K. Aittomäki Sex chromosome characteristics and recurrent miscarriage Fertil Steril 90 2008 2328 2333
50. A. Dasoula, S. Kalantaridou, A. Sotiriadis, M. Pavlou, I. Georgiou, and E. Paraskevaidis Skewed X-chromosome inactivation in Greek women with idiopathic recurrent miscarriage Fetal Diagn Ther 23 2008 198 203 (Pubitemid 351555841)
51. P.L. Kuo, S.C. Huang, L.W. Chang, C.H. Lin, W.H. Tsai, and Y.N. Teng Association of extremely skewed X-chromosome inactivation with Taiwanese women presenting with recurrent pregnancy loss J Formos Med Assoc 107 2008 340 343
52. F.K. Kavvoura, and J.P. Ioannidis Methods for meta-analysis in genetic association studies: a review of their potential and pitfalls Hum Genet 123 2008 1 14
53. M.C. Lanasa, W.A. Hogge, C. Kubik, J. Blancato, and E.P. Hoffman Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion Am J Hum Genet 65 1999 252 254 (Pubitemid 30470472)
54. R.M. Plenge, B.D. Hendrich, C. Schwartz, J.F. Arena, A. Naumova, and C. Sapienza A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation Nat Genet 17 1997 353 356 (Pubitemid 27476005)